G29V (p.Gly29Val) variant of SMAD4 (SMAD family member 4)
G29V (p.Gly29Val) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi. The record also includes structural context.
G29V (p.Gly29Val) variant details
- p.Gly29Val
- Ensembl rs2144400817
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Heredit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available